Allele Registry

Canonical Allele Identifier: PA645454202

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000486536

ClinVar Variation:

418402

HGVS (amino-acid)	Matching Registered Transcripts
NP_000275.1:p.Ile249Ser	CA16621291 NM_000284.4:c.746T>G